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Dmitriy M Niyazov

Showing results (11-20 of 17) with videos related to

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American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
The New England Journal of Medicine|September 14, 2012
Phenotypic heterogeneity of genomic disorders and rare copy-number variantsSanthosh Girirajan, Jill A Rosenfeld, Bradley P Coe, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
The New England Journal of Medicine|September 14, 2012
Phenotypic heterogeneity of genomic disorders and rare copy-number variantsSanthosh Girirajan, Jill A Rosenfeld, Bradley P Coe, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
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